Publications:

The Emerging Roles of Intracellular PCSK9 and Their Implications in Endoplasmic Reticulum Stress and Metabolic Diseases.

Metabolites

Lebeau, Paul F PF; Platko, Khrystyna K; Byun, Jae Hyun JH; Makda, Yumna Y; Austin, Richard C RC

Publication Date: 2022-02-26

Variant appearance in text: PCSK9: R97del

PubMed Link: 35323658

Variant Present in the following documents:

• metabolites-12-00215.pdf

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Protective lipid-lowering variants in healthy older individuals without coronary heart disease.

Open Heart

Lacaze, Paul P; Riaz, Moeen M; Sebra, Robert R; Hooper, Amanda J AJ; Pang, Jing J; Tiller, Jane J; Polekhina, Galina G; Tonkin, Andrew A; Reid, Chris C; Zoungas, Sophia S; Murray, Anne M AM; Nicholls, Stephen S; Watts, Gerald G; Schadt, Eric E; McNeil, John J JJ

Publication Date: 2021-07

Variant appearance in text: PCSK9: 290_292delGCC; Arg97del

PubMed Link: 34341098

Variant Present in the following documents:

• openhrt-2021-001710supp001.xlsx

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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research

Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC

Publication Date: 2011-11

Variant appearance in text: PCSK9: R97del

PubMed Link: 21862702

Variant Present in the following documents:

• Main text

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Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote.

American Journal Of Human Genetics

Zhao, Zhenze Z; Tuakli-Wosornu, Yetsa Y; Lagace, Thomas A TA; Kinch, Lisa L; Grishin, Nicholas V NV; Horton, Jay D JD; Cohen, Jonathan C JC; Hobbs, Helen H HH

Publication Date: 2006-09

Variant appearance in text: PCSK9: 290_292delGCC

PubMed Link: 16909389

Variant Present in the following documents:

• Main text

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